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Cell free fetal DNA in maternal plasma

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https://www.readbyqxmd.com/read/27887921/non-invasive-prenatal-diagnosis-of-thalassemias-using-maternal-plasma-cell-free-dna
#1
REVIEW
Irena Hudecova, Rossa W K Chiu
Non-invasive prenatal testing (NIPT) using maternal plasma cell free DNA has already reshaped the existing prenatal care system for pregnancies screened for common chromosomal aneuploidies. On the other hand, much progress has been made in developing NIPT for monogenic diseases. Thalassemia served as a disease model to develop strategies for NIPT of monogenic traits. One approach focuses on the detection or exclusion of paternally inherited fetal mutations that are absent from the mother's genome. The assessment of maternally inherited mutations in maternal plasma requires the use of highly sensitive DNA quantification techniques...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27862068/development-and-validation-of-a-fetal-genotyping-assay-with-potential-for-noninvasive-prenatal-diagnosis-of-hereditary-hearing-loss
#2
Ying Chen, Yiqian Liu, Benjing Wang, Jun Mao, Ting Wang, Kan Ye, Yanlin Ye, David S Cram, Hong Li
OBJECTIVE: Inherited non-syndromic hearing loss (NSHL) is a common sensory disorder that afflicts otherwise healthy individuals. The aim of the study was to evaluate the performance of circulating single molecule amplification and re-sequencing technology (cSMART) for non-invasive prenatal testing (NIPT) of NHSL. METHOD: Neonatal inheritance of NSHL mutations was determined from bloodspots using SNaPshot genotyping. NIPT of cell-free DNA for fetal NSHL mutations in the GJB2, GJB3 and SLC26A4 genes was performed by a multiplex cSMART assay...
November 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27836589/a-novel-non-invasive-detection-method-for-the-fgfr3-gene-mutation-in-maternal-plasma-for-a-fetal-achondroplasia-diagnosis-based-on-signal-amplification-by-hemin-mofs-ptnps
#3
Jun Chen, Chao Yu, Yilin Zhao, Yazhen Niu, Lei Zhang, Yujie Yu, Jing Wu, Junlin He
The small amount of cell-free fetal DNA (cffDNA) can be a useful biomarker for early non-invasive prenatal diagnosis (NIPD) of achondroplasia. In this study, a novel non-invasive electrochemical DNA sensor for ultrasensitive detecting FGFR3 mutation gene, a pathogenic gene of achondroplasia, based on biocatalytic signal materials and the biotin-streptavidin system are presented. Notably encapsulation of hemin in metal-organic frameworks-based materials (hemin-MOFs) and platinum nanoparticles (PtNPs) were used to prepare hemin-MOFs/PtNPs composites via a one-beaker-one-step reduction...
November 1, 2016: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/27834155/whole-genome-fetal-and-maternal-dna-methylation-analysis-using-medip-ngs-for-the-identification-of-differentially-methylated-regions
#4
Anna Keravnou, Marios Ioannides, Kyriakos Tsangaras, Charalambos Loizides, Michael D Hadjidaniel, Elisavet A Papageorgiou, Skevi Kyriakou, Pavlos Antoniou, Petros Mina, Achilleas Achilleos, Maria Neofytou, Elena Kypri, Carolina Sismani, George Koumbaris, Philippos C Patsalis
DNA methylation is an epigenetic marker that has been shown to vary significantly across different tissues. Taking advantage of the methylation differences between placenta-derived cell-free DNA and maternal blood, several groups employed different approaches for the discovery of fetal-specific biomarkers. The aim of this study was to analyse whole-genome fetal and maternal methylomes in order to identify and confirm the presence of differentially methylated regions (DMRs). We have initially utilized methylated DNA immunoprecipitation (MeDIP) and next-generation sequencing (NGS) to identify genome-wide DMRs between chorionic villus sampling (CVS) and female non-pregnant plasma (PL) and peripheral blood (WBF) samples...
November 11, 2016: Genetics Research
https://www.readbyqxmd.com/read/27824757/circulating-cell-free-dna-to-determine-the-fetal-rhd-status-in-all-three-trimesters-of-pregnancy
#5
Kenneth J Moise, Manisha Gandhi, Noemi H Boring, Richard OʼShaughnessy, Lynn L Simpson, Honor M Wolfe, Jason K Baxter, William Polzin, Keith A Eddleman, Sonia S Hassan, Daniel W Skupski, Greg Ryan, Martin Walker, Garrett Lam, Richard Brown, M Amanda Skoll, Christopher Robinson, Asad Sheikh, Richard Bronsteen, Lauren A Plante, Graham McLennan, Anna Chikova, Toni Paladino
OBJECTIVE: To estimate the accuracy of a new assay to determine the fetal RHD status using circulating cell-free DNA. METHODS: This was a prospective, observational study. Maternal blood samples were collected in each trimester of pregnancy in 520 nonalloimmunized RhD-negative patients. Plasma samples were analyzed for circulating cell-free DNA using the SensiGENE RHD test, which used primers for exons 4 and 7 as previously described and incorporated a new primer design for exon 5 of the RHD gene...
December 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27821701/sensitivity-of-fetal-rhd-screening-for-safe-guidance-of-targeted-anti-d-immunoglobulin-prophylaxis-prospective-cohort-study-of-a-nationwide-programme-in-the-netherlands
#6
Masja de Haas, Florentine F Thurik, Catharina P B van der Ploeg, Barbera Veldhuisen, Hoang Hirschberg, Aicha Ait Soussan, Heleen Woortmeijer, Frithjofna Abbink, Godelieve C M L Page-Christiaens, Peter G Scheffer, C Ellen van der Schoot
OBJECTIVE:  To determine the accuracy of non-invasive fetal testing for the RHD gene in week 27 of pregnancy as part of an antenatal screening programme to restrict anti-D immunoglobulin use to women carrying a child positive for RHD DESIGN:  Prospectively monitoring of fetal RHD testing accuracy compared with serological cord blood typing on introduction of the test. Fetal RHD testing was performed with a duplex real time quantitative polymerase chain reaction, with cell-free fetal DNA isolated from 1 mL of maternal plasma The study period was between 4 July 2011 and 7 October 2012...
November 7, 2016: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/27812255/fetal-rhd-genotyping-from-circulating-cell-free-fetal-dna-in-plasma-of-rh-negative-pregnant-women-in-iran
#7
Mohammad Hossein Ahmadi, Sedigheh Hantuoshzadeh, Mohammad Ali Okhovat, Nahid Nasiri, Azita Azarkeivan, Naser Amirizadeh
The prenatal determination of the fetal Rh genotype could lead to a substantial reduction in the use of anti-D immunoglobulin and prevention of unnecessary exposure of pregnant women carrying RhD negative fetus. The aim of this study was fetal RHD genotyping through the analysis of cffDNA in plasma samples of RhD negative pregnant women by real-time PCR technique. In this experiment, 30 plasma samples were collected from RhD negative pregnant women. DNA were extracted and real-time PCR reactions were done by specific primers for RHD, SRY and beta-globin (GLO) genes...
December 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27694391/using-targeted-sequencing-of-paralogous-sequences-for-noninvasive-detection-of-selected-fetal-aneuploidies
#8
Christopher K Ellison, Youting Sun, Grant Hogg, Jesse Fox, Helen Tao, Erin McCarthy, Bright Sagoe, Mostafa A Azab, Amin R Mazloom, John Tynan, Timothy Burcham, Sung K Kim, Dirk van den Boom, Mathias Ehrich, Taylor J Jensen
BACKGROUND: Current methods for noninvasive prenatal testing (NIPT) ascertain fetal aneuploidies using either direct counting measures of DNA fragments from specific genomic regions or relative measures of single nucleotide polymorphism frequencies. Alternatively, the ratios of paralogous sequence pairs were predicted to reflect fetal aneuploidy. We developed a NIPT assay that uses paralog sequences to enable noninvasive detection of fetal trisomy 21 (T21) and trisomy 18 (T18) using cell-free DNA (cfDNA) from maternal plasma...
December 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27662469/an-advanced-model-to-precisely-estimate-the-cell-free-fetal-dna-concentration-in-maternal-plasma
#9
Xiongbin Kang, Jun Xia, Yicong Wang, Huixin Xu, Haojun Jiang, Weiwei Xie, Fang Chen, Peng Zeng, Xuchao Li, Yifan Xie, Hongtai Liu, Guodong Huang, Dayang Chen, Ping Liu, Hui Jiang, Xiuqing Zhang
BACKGROUND: With the speedy development of sequencing technologies, noninvasive prenatal testing (NIPT) has been widely applied in clinical practice for testing for fetal aneuploidy. The cell-free fetal DNA (cffDNA) concentration in maternal plasma is the most critical parameter for this technology because it affects the accuracy of NIPT-based sequencing for fetal trisomies 21, 18 and 13. Several approaches have been developed to calculate the cffDNA fraction of the total cell-free DNA in the maternal plasma...
2016: PloS One
https://www.readbyqxmd.com/read/27645814/cell-free-fetal-dna-testing-for-prenatal-diagnosis
#10
S Drury, M Hill, L S Chitty
Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) for Down syndrome as a highly sensitive screening test is now available worldwide through the commercial sector with many countries moving toward implementation into their publically funded maternity systems. Noninvasive prenatal diagnosis (NIPD) can now be performed for definitive diagnosis of some recessive and X-linked conditions, rather than just paternally inherited dominant and de novo conditions...
2016: Advances in Clinical Chemistry
https://www.readbyqxmd.com/read/27620950/cell-free-dna-in-maternal-plasma-and-serum-a-comparison-of-quantity-quality-and-tissue-origin-using-genomic-and-epigenomic-approaches
#11
Felix C K Wong, Kun Sun, Peiyong Jiang, Yvonne K Y Cheng, K C Allen Chan, Tak Y Leung, Rossa W K Chiu, Yuk Ming Dennis Lo
OBJECTIVES: The objectives of this study were to compare the concentrations, size profiles and major tissue contributors of cell-free DNA (cfDNA) in plasma and in serum. DESIGN AND METHODS: Thirteen pregnant women in the third trimester were recruited for this study. We collected EDTA-plasma and serum samples using various collection tubes. We determined their cfDNA concentrations and fetal cfDNA fractions using a zinc-finger X (ZFX)/zinc-finger Y (ZFY) droplet digital polymerase chain reaction (ZFX/ZFY ddPCR) assay...
December 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27595845/determination-of-fetal-rhd-genotype-including-the-rhd-pseudogene-in-maternal-plasma
#12
Karen Chinoca Ziza, Adolfo Wenjaw Liao, Marcia Dezan, Carla Luana Dinardo, Eduardo Jens, Rossana Pulcineli Vieira Francisco, Alfredo Mendrone Junior, Marcelo Zugaib, José Eduardo Levi
OBJECTIVE: To examine the accuracy of fetal RHD genotype and RHD pseudogene determination in a multiethnical population. METHODS: Prospective study involving D-negative pregnant women. Cell-free DNA was extracted from 1 ml of maternal plasma by an automated system (MagNA Pure Compact, Roche) and real-time PCR was performed in triplicate targeting the RHD gene exons 5 and 7. Inconclusive samples underwent RHD pseudogene testing by real-time PCR analysis employing novel primers and probe...
September 6, 2016: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/27584908/accuracy-and-clinical-value-of-maternal-incidental-findings-during-noninvasive-prenatal-testing-for-fetal-aneuploidies
#13
Nathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, Jessica M E van den Oever, Katrien Janssens, Bettina Blaumeiser, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt, Joris R Vermeesch
PURPOSE: Genome-wide sequencing of cell-free (cf)DNA of pregnant women aims to detect fetal chromosomal imbalances. Because the largest fraction of cfDNA consists of maternal rather than fetal DNA fragments, maternally derived copy-number variants (CNVs) are also measured. Despite their potential clinical relevance, current analyses do not interpret maternal CNVs. Here, we explore the accuracy and clinical value of maternal CNV analysis. METHODS: Noninvasive prenatal testing was performed by whole-genome shotgun sequencing on plasma samples...
September 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27569022/analysis-of-first-trimester-combined-test-results-in-preparation-for-a-cell-free-fetal-dna-era
#14
Semir Kose, Dilek Cımrın, Nuri Yıldırım, Ozge Aksel, Pembe Keskinoglu, Elcin Bora, Tufan Cankaya, Sabahattin Altunyurt
OBJECTIVE: To survey experience with the first-trimester combined test (FCT) for trisomy 21 (T21) in different risk score groups to determine the most useful clinical application of cell-free fetal DNA (cffDNA) screening. METHODS: In a retrospective study, the records of FCT results obtained at a center in Turkey between January 2009 and January 2014 were reviewed. The FCT results and rates of uptake of invasive diagnostic testing were compared among different risk score groups...
November 2016: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/27558515/does-formaldehyde-increase-cell-free-dna-in-maternal-plasma-specimens
#15
Rintu R Jacob, Renu Saxena, Ishwar C Verma
BACKGROUND: There have been conflicting observations reported in the literature regarding the effects of formaldehyde in the recovery of cell free fetal DNA (CFF DNA) from maternal plasma. The aim of the present study was to assess the effect of formaldehyde treatment on circulating cell free DNA. METHODS: We conducted this study using blood specimens collected from 11 pregnant women, each of whom was carrying a male fetus. DYS14 and HBB real time assays were performed to quantify fetal and total circulating cell free DNA from formaldehyde treated and untreated maternal plasma specimens, respectively...
November 2016: Laboratory Medicine
https://www.readbyqxmd.com/read/27558279/abnormal-plasma-dna-profiles-in-early-ovarian-cancer-using-a-non-invasive-prenatal-testing-platform-implications-for-cancer-screening
#16
Paul A Cohen, Nicola Flowers, Stephen Tong, Natalie Hannan, Mark D Pertile, Lisa Hui
BACKGROUND: Non-invasive prenatal testing (NIPT) identifies fetal aneuploidy by sequencing cell-free DNA in the maternal plasma. Pre-symptomatic maternal malignancies have been incidentally detected during NIPT based on abnormal genomic profiles. This low coverage sequencing approach could have potential for ovarian cancer screening in the non-pregnant population. Our objective was to investigate whether plasma DNA sequencing with a clinical whole genome NIPT platform can detect early- and late-stage high-grade serous ovarian carcinomas (HGSOC)...
August 24, 2016: BMC Medicine
https://www.readbyqxmd.com/read/27531802/-application-of-rassf1a-to-noninvasive-fetal-abo-genotyping-in-pregrnant-peripheral-plasma
#17
Ling Ma, Yan-Chun Liu, Ruo-Yang Zhang, Xiao-Yu Zhou, Jing-Ming Xun
OBJECTIVE: To investigate the feasibility of noninvasive fetal ABO genotyping based on RASSF1A gene with circulating cell-free fetal DNA(cffDNA) from maternal plasma. METHODS: DNA was extracted from the O group pregnant plasma, and the presence of cffDNA was confirmed by fetal DNA maker SRY and RASSF1A. B and non-O were detected by real-time PCR, and the genotyping results were evaluated by using the serologic tests for ABO phenotyping. RESULTS: Among the samples of 20 cases, the SRY was found in 11 cases by detecteion, the detection results were consistent with sex of infants after delivery; the RASSF1A was amplified all in samples of other 9 cases after BstU1 cleavage, which confirmed existance of cffDNA...
August 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/27515011/the-clinical-utility-of-non-invasive-prenatal-testing-in-pregnancies-with-ultrasound-anomalies
#18
Lean Beulen, Brigitte H W Faas, Ilse Feenstra, John M G van Vugt, Mireille N Bekker
OBJECTIVE: This study aims to evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing for pregnancies with abnormal ultrasound findings. METHOD: A retrospective analysis was performed of 251 single and multiple pregnancies at high risk for fetal chromosomal abnormalities based on ultrasonographic examination, where NIPT was performed as first-tier genetic test. NIPT was performed by massively parallel sequencing of cell-free DNA in maternal plasma, allowing genome-wide detection of whole-chromosome as well as partial autosomal aneuploidies, as currently in the Dutch laboratories, sex chromosomes are not analysed...
August 12, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27477181/analysis-of-cell-free-fetal-dna-for-non-invasive-prenatal-diagnosis-in-a-family-with-neonatal-diabetes
#19
E De Franco, R Caswell, J A L Houghton, V Iotova, A T Hattersley, S Ellard
AIMS: An early genetic diagnosis of neonatal diabetes guides clinical management and results in improved treatment in ~ 40% of patients. In the offspring of individuals with neonatal diabetes, a prenatal diagnosis allows accurate estimation of the risk of developing diabetes and, eventually, the most appropriate treatment for the baby. In this study, we performed non-invasive prenatal genetic testing for a fetus at risk of inheriting a paternal KCNJ11 p.R201C mutation causing permanent neonatal diabetes...
June 29, 2016: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/27452437/epigenetic-regulation-of-stat5a-and-its-role-as-fetal-dna-epigenetic-marker-during-placental-development-and-dysfunction
#20
Beenish Rahat, Shilpa Thakur, Rashmi Bagga, Jyotdeep Kaur
INTRODUCTION: Development of normal placenta requires regulated apoptosis of trophoblasts. However, uncontrolled apoptosis has been seen in the pregnancy related complications like hydatidiform mole and pre-eclampsia. STAT5A is a transcription factor with well-known anti-apoptotic role. Thus, we sought to study the role of STAT5A and its epigenetic regulation in placental development and pathologies and its use as fetal DNA epigenetic marker. METHODS: The present study was conducted on pregnant women who were enrolled in five groups, based on the three trimesters in normal pregnancy and two pregnancy related disorder groups: pre-eclampsia and hydatidiform mole...
August 2016: Placenta
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